CAAP1 — 53 ClinVar variants
All ClinVar germline CAAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
3 Likely benign · 50 Uncertain significance
Full CAAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAAP1 p.Ala209Val Uncertain significance Single submitter
- CAAP1 p.Ala22Glu Uncertain significance Single submitter
- CAAP1 p.Ala261Gly Uncertain significance Single submitter
- CAAP1 p.Ala288Gly Uncertain significance Single submitter
- CAAP1 p.Ala322Ser Uncertain significance Single submitter
- CAAP1 p.Ala347Pro Uncertain significance Single submitter
- CAAP1 p.Ala354Pro Uncertain significance Single submitter
- CAAP1 p.Asn282Asp Uncertain significance Single submitter
- CAAP1 p.Asn314His Uncertain significance Single submitter
- CAAP1 p.Glu113Lys Uncertain significance Single submitter
- CAAP1 p.Glu235Asp Uncertain significance Single submitter
- CAAP1 p.Glu272Gln Uncertain significance Single submitter
- CAAP1 p.Glu80Gly Uncertain significance Single submitter
- CAAP1 p.Glu83Asp Uncertain significance Single submitter
- CAAP1 p.Gly247Val Uncertain significance Single submitter
- CAAP1 p.Gly48Cys Uncertain significance Single submitter
- CAAP1 p.Ile28Val Uncertain significance Single submitter
- CAAP1 p.Ile357Thr Uncertain significance Single submitter
- CAAP1 p.Ile357Val Uncertain significance Single submitter
- CAAP1 p.Lys317Glu Uncertain significance Single submitter
- CAAP1 p.Lys86Arg Uncertain significance Single submitter
- CAAP1 p.Met201Arg Uncertain significance Single submitter
- CAAP1 p.Met215Leu Uncertain significance Single submitter
- CAAP1 p.Phe151Val Uncertain significance Single submitter
- CAAP1 p.Pro269Thr Uncertain significance Single submitter
- CAAP1 p.Pro324Ser Uncertain significance Single submitter
- CAAP1 p.Pro325Ser Uncertain significance Single submitter
- CAAP1 p.Ser15Thr Uncertain significance Single submitter
- CAAP1 p.Thr65Ala Uncertain significance Single submitter
- CAAP1 p.Val52Ala Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CAAP1 p.Arg12Gly Uncertain significance Single submitter
- CAAP1 p.Glu188Gly Uncertain significance Single submitter
- CAAP1 p.Glu206Gly Uncertain significance Single submitter
- CAAP1 p.Glu240Lys Uncertain significance Single submitter
- CAAP1 p.Gly307Arg Uncertain significance Single submitter
- CAAP1 p.Gly44Glu Uncertain significance Single submitter
- CAAP1 p.Gly47Val Uncertain significance Single submitter
- CAAP1 p.Gly56Ala Uncertain significance Single submitter
- CAAP1 p.Gly62Glu Uncertain significance Single submitter
- CAAP1 p.Gly68Glu Uncertain significance Single submitter
- CAAP1 p.Gly75Val Uncertain significance Single submitter
- CAAP1 p.Lys157Glu Uncertain significance Single submitter
- CAAP1 p.Lys176Arg Uncertain significance Single submitter
- CAAP1 p.Ser15Asn Uncertain significance Single submitter
- CAAP1 p.Ser232Tyr Uncertain significance Single submitter
- CAAP1 p.Ser53Thr Likely benign Single submitter
- CAAP1 p.Ser78Ile Uncertain significance Single submitter
- CAAP1 p.Ser7Phe Uncertain significance Single submitter
- CAAP1 p.Ser92Cys Uncertain significance Single submitter
- CAAP1 p.Ser98Phe Uncertain significance Single submitter
- CAAP1 p.Val64Ile Uncertain significance Single submitter
All CAAP1 variants
Likely benign 3
- p.Ala230Thr Single submitter
- p.Asn59Ser Single submitter
- p.Ser53Thr Single submitter ⚠
Uncertain significance 50
- p.Ala209Val Single submitter ⚠
- p.Ala22Glu Single submitter ⚠
- p.Ala261Gly Single submitter ⚠
- p.Ala288Gly Single submitter ⚠
- p.Ala322Ser Single submitter ⚠
- p.Ala347Pro Single submitter ⚠
- p.Ala354Pro Single submitter ⚠
- p.Arg12Gly Single submitter ⚠
- p.Asn282Asp Single submitter ⚠
- p.Asn314His Single submitter ⚠
- p.Glu113Lys Single submitter ⚠
- p.Glu188Gly Single submitter ⚠
- p.Glu206Gly Single submitter ⚠
- p.Glu235Asp Single submitter ⚠
- p.Glu240Lys Single submitter ⚠
- p.Glu272Gln Single submitter ⚠
- p.Glu80Gly Single submitter ⚠
- p.Glu83Asp Single submitter ⚠
- p.Gly247Val Single submitter ⚠
- p.Gly307Arg Single submitter ⚠
- p.Gly44Glu Single submitter ⚠
- p.Gly47Val Single submitter ⚠
- p.Gly48Cys Single submitter ⚠
- p.Gly56Ala Single submitter ⚠
- p.Gly62Glu Single submitter ⚠
- p.Gly68Glu Single submitter ⚠
- p.Gly75Val Single submitter ⚠
- p.Ile28Val Single submitter ⚠
- p.Ile357Thr Single submitter ⚠
- p.Ile357Val Single submitter ⚠
- p.Lys157Glu Single submitter ⚠
- p.Lys176Arg Single submitter ⚠
- p.Lys317Glu Single submitter ⚠
- p.Lys86Arg Single submitter ⚠
- p.Met201Arg Single submitter ⚠
- p.Met215Leu Single submitter ⚠
- p.Phe151Val Single submitter ⚠
- p.Pro269Thr Single submitter ⚠
- p.Pro324Ser Single submitter ⚠
- p.Pro325Ser Single submitter ⚠
- p.Ser15Asn Single submitter ⚠
- p.Ser15Thr Single submitter ⚠
- p.Ser232Tyr Single submitter ⚠
- p.Ser78Ile Single submitter ⚠
- p.Ser7Phe Single submitter ⚠
- p.Ser92Cys Single submitter ⚠
- p.Ser98Phe Single submitter ⚠
- p.Thr65Ala Single submitter ⚠
- p.Val52Ala Single submitter ⚠
- p.Val64Ile Single submitter ⚠